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  2. Hypertension and Aldosterone disorders
  3. KCNJ5
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Hypertension and Aldosterone disorders

Gene: KCNJ5

Green List (high evidence)
KCNJ5 (potassium voltage-gated channel subfamily J member 5)
EnsemblGeneIds (GRCh38): ENSG00000120457
EnsemblGeneIds (GRCh37): ENSG00000120457
OMIM: 600734, Gene2Phenotype
KCNJ5 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 30 May 2021, 10:33 a.m. | Last Modified: 30 May 2021, 10:33 a.m.
Panel Version: 0.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperaldosteronism, familial, type III, MIM# 613677

Publications

Created: 30 May 2021, 10:33 a.m.
Last Modified: 30 May 2021, 10:33 a.m.
Panel version: 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type III, MIM# 613677
OMIM
600734
Clinvar variants
Variants in KCNJ5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj5 has been classified as Green List (High Evidence).

30 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, MIM# 613677

30 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ5 were set to

30 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ5 was added gene: KCNJ5 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0 Mode of inheritance for gene: KCNJ5 was set to Unknown